1. Genetic Disorders

2. Classification of genetic disorders
Single-gene disorders (2%)
Chromosome disorders (<1%)
Multifactorial disorders (60%)

3. Types of Mutation class of mutation mechanism frequency examples
Genome
chromosome missegregation
10-2 / cell
division
aneuploidy
Chromosome
chromosome rearrangement
10-4 / cell
trans-locations
Gene
base-pair mutation
10-10 / cell
point mutations

4. Mendelian inheritance reflects rules of probability
The Rule of Multiplication
- simultaneous events
The Rule of Addition
- successive events

5. The Rule of Multiplication (simultaneous events)
number of gamete recombination
x = 2n n = number of tested genes
number of zygote recombination
y = x2

6. The Rule of Addition (successive events)
probability of dominant phenotype
p = pAA + pAa A,a = alleles on a gene
probability of disease risk
p = pF + pP
F = familial risk
P = population risk

9. Amniocentesis

10. Prenatal testing
DNA analysis
cytogenetics
biochemical

11. Literature Biology, eighth edition, Campbell, Reece
Unit three: Genetics
Chapter 14: Mendel and the Gene Idea
Concept 14.4: Many human traits follow Mendelian patterns of inheritance
Pages 279 – 281